Variant report

Variant	rs61524789
Chromosome Location	chr11:62295149-62295150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62294509..62298549-chr11:62300947..62305014,4	K562	blood:

Variant related genes	Relation type
ENSG00000250659	Chromatin interaction
ENSG00000124942	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	1.00[AMR][1000 genomes]
rs11231140	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv3329019	chr11:62294962-62295664	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
2	chr11:62276600-62299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:62276800-62298600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:62276800-62298800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
7	chr11:62279600-62296200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:62281200-62303400	Strong transcription	Gastric	stomach
12	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:62281400-62303200	Strong transcription	Lung	lung
16	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
18	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:62281800-62295200	Strong transcription	HSMMtube	muscle
21	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
27	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:62282000-62303600	Strong transcription	Osteobl	bone
30	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:62282000-62304800	Strong transcription	HSMM	muscle
34	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:62282400-62302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:62282600-62295400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:62283000-62297600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:62283000-62300200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:62283000-62302800	Strong transcription	NH-A	brain
42	chr11:62283000-62304400	Strong transcription	HMEC	breast
43	chr11:62283200-62295600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:62283200-62301200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:62283200-62305000	Strong transcription	NHEK	skin
46	chr11:62283400-62295200	Strong transcription	Psoas Muscle	Psoas
47	chr11:62283400-62301600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:62283400-62302800	Strong transcription	HUVEC	blood vessel
49	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:62283600-62303200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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